Canonical Allele Identifier: CA278106
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11300
ClinVar RCV Id: RCV000012052 RCV001001636 RCV001781249
dbSNP Id: rs128624219
COSMIC: COSM4440650
MyVariant Identifiers: chrX:g.153001686G>A (hg19) chrX:g.153736232G>A (hg38)
PubMed: PMID:7849723
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736232G>A , CM000685.2:g.153736232G>A GRCh38
NC_000023.10:g.153001686G>A , CM000685.1:g.153001686G>A GRCh37
NC_000023.9:g.152654880G>A NCBI36
NG_009022.2:g.16365G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1202G>A MANE Select ENSP00000218104.3:p.Arg401Gln
ENST00000218104.5:c.1202G>A ENSP00000218104.3:p.Arg401Gln
ENST00000443684.2:n.205G>A
NM_000033.3:c.1202G>A NP_000024.2:p.Arg401Gln
XR_938507.1:n.1618G>A
XR_938507.2:n.1618G>A
NM_000033.4:c.1202G>A MANE Select NP_000024.2:p.Arg401Gln
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